Homo sapiens Protein: OAT
Summary
InnateDB Protein IDBP-92637.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol OAT
Protein Name ornithine aminotransferase
Synonyms GACR; HOGA; OATASE; OKT;
Species Homo sapiens
Ensembl Protein ENSP00000357838
InnateDB Gene IDBG-92635 (OAT)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Mitochondrion matrix.
Disease Associations Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]: A disorder clinically characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. Characteristic chorioretinal atrophy with progressive constriction of the visual fields leads to blindness at the latest during the sixth decade of life. Patients generally have normal intelligence. {ECO:0000269PubMed:1612597, ECO:0000269PubMed:1737786, ECO:0000269PubMed:2793865, ECO:0000269PubMed:3375240, ECO:0000269PubMed:7668253, ECO:0000269PubMed:7887415}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
Experimentally validated
Total 25 [view]
Protein-Protein 24 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004587 ornithine-oxo-acid transaminase activity
GO:0008483 transaminase activity
GO:0030170 pyridoxal phosphate binding
Biological Process
GO:0007601 visual perception
GO:0008652 cellular amino acid biosynthetic process
GO:0034214 protein hexamerization
GO:0034641 cellular nitrogen compound metabolic process
GO:0044281 small molecule metabolic process
GO:0055129 L-proline biosynthetic process
Cellular Component
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
Protein Structure and Domains
PDB ID
InterPro IPR005814 Aminotransferase class-III
IPR010164 Ornithine aminotransferase
IPR015424 Pyridoxal phosphate-dependent transferase
PFAM PF00202
PRINTS
PIRSF PIRSF000521
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P04181
PhosphoSite PhosphoSite-P04181
TrEMBL
UniProt Splice Variant
Entrez Gene 4942
UniGene
RefSeq NP_000265
HUGO HGNC:8091
OMIM 613349
CCDS CCDS7639
HPRD 02021
IMGT
EMBL AK296032 AK312561 AK315947 AL445237 BC000964 BC016928 CH471066 CR457045 CR749808 M12267 M14963 M23204 M23205 M29919 M29920 M29921 M29922 M29923 M29924 M29925 M29926 M29927 M88760 S66418 S66421 Y07511
GenPept AAA36386 AAA59956 AAA59957 AAA59958 AAA59959 AAB20297 AAB20298 AAH00964 AAH16928 BAG35458 BAH12241 BAH14318 CAA68809 CAG33326 CAH18668 CAI17293 EAW49271 EAW49272